ABCC8 Gene Diabetes Mellitus Permanent Neonatal Genetic Test
Welcome to DNA Labs UAE, where we offer the ABCC8 Gene Diabetes Mellitus Permanent Neonatal Genetic Test. This test helps diagnose a rare form of diabetes that presents within the first six months of life. It is characterized by persistent hyperglycemia and requires lifelong treatment with insulin.
Test Details
The ABCC8 gene is responsible for encoding a protein called sulfonylurea receptor 1 (SUR1), which plays a crucial role in regulating insulin secretion in pancreatic beta cells. Mutations in the ABCC8 gene can lead to a condition called diabetes mellitus, permanent neonatal (PNDM).
NGS (next-generation sequencing) genetic testing can be used to identify mutations in the ABCC8 gene and confirm a diagnosis of PNDM. NGS genetic testing involves sequencing the DNA of an individual to identify any variations or mutations in specific genes. In the case of PNDM, the ABCC8 gene is sequenced to look for any disease-causing mutations.
This testing can help determine the underlying cause of PNDM in an affected individual and can also be used for carrier testing in family members. Identifying the specific mutation in the ABCC8 gene can have important implications for treatment and management of PNDM.
In some cases, individuals with specific ABCC8 mutations may be responsive to oral sulfonylurea medications, which can help regulate blood sugar levels and reduce the need for insulin therapy.
In summary, NGS genetic testing of the ABCC8 gene can be used to diagnose diabetes mellitus, permanent neonatal and guide treatment decisions. It allows for a more personalized approach to managing the condition based on the specific genetic mutation present.
Test Information
- Test Name: ABCC8 Gene Diabetes Mellitus Permanent Neonatal Genetic Test
- Components: DNA sequencing of the ABCC8 gene
- Price: 4400.0 AED
- Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
- Report Delivery: 3 to 4 Weeks
- Method: NGS Technology
- Test Type: Metabolic Disorders
- Doctor: General Physician
- Test Department: Genetics
- Pre Test Information: Clinical History of Patient who is going for ABCC8 Gene Diabetes Mellitus, Permanent Neonatal NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Diabetes Mellitus, Permanent Neonatal.
For more information or to schedule an appointment, please contact DNA Labs UAE.
| Test Name | ABCC8 Gene Diabetes mellitus permanent neonatal Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card |
| Report Delivery | 3 to 4 Weeks |
| Method | NGS Technology |
| Test type | Metabolic Disorders |
| Doctor | General Physician |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for ABCC8 Gene Diabetes mellitus, permanent neonatal NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Diabetes mellitus, permanent neonatal |
| Test Details | The ABCC8 gene is responsible for encoding a protein called sulfonylurea receptor 1 (SUR1), which plays a crucial role in regulating insulin secretion in pancreatic beta cells. Mutations in the ABCC8 gene can lead to a condition called diabetes mellitus, permanent neonatal (PNDM). PNDM is a rare form of diabetes that presents within the first six months of life. It is characterized by persistent hyperglycemia and requires lifelong treatment with insulin. NGS (next-generation sequencing) genetic testing can be used to identify mutations in the ABCC8 gene and confirm a diagnosis of PNDM. NGS genetic testing involves sequencing the DNA of an individual to identify any variations or mutations in specific genes. In the case of PNDM, the ABCC8 gene is sequenced to look for any disease-causing mutations. This testing can help determine the underlying cause of PNDM in an affected individual and can also be used for carrier testing in family members. Identifying the specific mutation in the ABCC8 gene can have important implications for treatment and management of PNDM. In some cases, individuals with specific ABCC8 mutations may be responsive to oral sulfonylurea medications, which can help regulate blood sugar levels and reduce the need for insulin therapy. In summary, NGS genetic testing of the ABCC8 gene can be used to diagnose diabetes mellitus, permanent neonatal and guide treatment decisions. It allows for a more personalized approach to managing the condition based on the specific genetic mutation present. |
